Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ADA: 466C>T; Arg156Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.

Nature Communications

Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM

Publication Date: 2021-09-21

Variant appearance in text: ADA: 466C>T

PubMed Link: 34548479

Variant Present in the following documents:

• 41467_2021_25769_MOESM5_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Frontiers In Immunology

Vignesh, Pandiarajan P; Rawat, Amit A; Kumrah, Rajni R; Singh, Ankita A; Gummadi, Anjani A; Sharma, Madhubala M; Kaur, Anit A; Nameirakpam, Johnson J; Jindal, Ankur A; Suri, Deepti D; Gupta, Anju A; Khadwal, Alka A; Saikia, Biman B; Minz, Ranjana Walker RW; Sharma, Kaushal K; Desai, Mukesh M; Taur, Prasad P; Gowri, Vijaya V; Pandrowala, Ambreen A; Dalvi, Aparna A; Jodhawat, Neha N; Kambli, Priyanka P; Madkaikar, Manisha Rajan MR; Bhattad, Sagar S; Ramprakash, Stalin S; Cp, Raghuram R; Jayaram, Ananthvikas A; Sivasankaran, Meena M; Munirathnam, Deenadayalan D; Balaji, Sarath S; Rajendran, Aruna A; Aggarwal, Amita A; Singh, Komal K; Na, Fouzia F; George, Biju B; Mehta, Ankit A; Lashkari, Harsha Prasada HP; Uppuluri, Ramya R; Raj, Revathi R; Bartakke, Sandip S; Gupta, Kirti K; Sreedharanunni, Sreejesh S; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Chan, Koon Wing KW; Leung, Daniel D; Ohara, Osamu O; Nonoyama, Shigeaki S; Hershfield, Michael M; Lau, Yu-Lung YL; Singh, Surjit S

Publication Date: 2020

Variant appearance in text: ADA: 466C>T; R156C

PubMed Link: 33628209

Variant Present in the following documents:

• Main text
• fimmu-11-619146.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ADA: R156C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ADA: 466C>T; rs121908735

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology

Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A

Publication Date: 2020-05

Variant appearance in text: ADA: R156C

PubMed Link: 32307643

Variant Present in the following documents:

• Main text
• 10875_2020_Article_777.pdf

View BVdb publication page

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research

Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: ADA: R156C; rs121908735

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

View BVdb publication page

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Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.

Frontiers In Pediatrics

Tripodi, Serena I SI; Corti, Paola P; Giliani, Silvia S; Lanfranchi, Arnalda A; Biondi, Andrea A; Badolato, Raffaele R

Publication Date: 2018

Variant appearance in text: ADA: R156C

PubMed Link: 30327760

Variant Present in the following documents:

• fped-06-00272.pdf

View BVdb publication page

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Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Blood

Cicalese, Maria Pia MP; Ferrua, Francesca F; Castagnaro, Laura L; Pajno, Roberta R; Barzaghi, Federica F; Giannelli, Stefania S; Dionisio, Francesca F; Brigida, Immacolata I; Bonopane, Marco M; Casiraghi, Miriam M; Tabucchi, Antonella A; Carlucci, Filippo F; Grunebaum, Eyal E; Adeli, Mehdi M; Bredius, Robbert G RG; Puck, Jennifer M JM; Stepensky, Polina P; Tezcan, Ilhan I; Rolfe, Katie K; De Boever, Erika E; Reinhardt, Rickey R RR; Appleby, Jonathan J; Ciceri, Fabio F; Roncarolo, Maria Grazia MG; Aiuti, Alessandro A

Publication Date: 2016-07-07

Variant appearance in text: ADA: R156C

PubMed Link: 27129325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ADA: R156C; rs121908735

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ADA: R156C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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